Table 4

Validation results of the seven selected variants

ID

Ref

Alt

Gene

Samples

4:1

3:5

3:1

3:2

3:4

3:6

3:7

1

C

G

CACNA1D

√

√

√

×

×

×

√

2

-

AGC

BMP6

√

√

√

√

√

×

√

3

G

A

LRP1

√

√

√

×

×

×

×

4

-

C

WNK1

√

√

√

×

√

√

×

5

G

T

FBN1

√

√

√

×

×

×

×

6

CAGCAG

-

MEF2A

√

√

√

√

√

√

√

7

TCC

-

DSC2

√

√

√

×

×

×

×

Note: The ID of each variant is in correspondence with that in Table 3. The id of each sample is in correspondence with that in Figure 1. “√” denotes same results as exome sequencing analysis and “×” means no variant was detected. Variants exist only in affected samples are shown
in bold.